Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility.

TitleVariation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility.
Publication TypeJournal Article
Year of Publication2006
AuthorsWeiss LA, Kosova G, Delahanty RJ, Jiang L, Cook EH, Ober C, Sutcliffe JS
JournalEuropean journal of human genetics : EJHG
Volume14
Pagination923-31
Date Published8
ISSN1018-4813
AbstractAutism is a pervasive developmental disorder affecting more males than females. Heritability estimates for autism can rise above 90%, and genes influencing the serotonin system are strong candidates for autism susceptibility genes, as drugs selectively acting on the serotonin system are some of the most effective treatments for maladaptive behaviors seen in autism. ITGB3 was recently identified as a male quantitative trait locus (QTL) for whole-blood serotonin levels in the Hutterites (P = 0.0003). Here, we demonstrate associations between variation in ITGB3 and serotonin levels in two outbred samples (P = 0.010 and 0.015). Lastly, we show that a coding variant of ITGB3 is associated with autism susceptibility in a large multiplex sample (P = 0.00082), and that this variation has different effects in males and females (P = 0.0018).
DOI10.1038/sj.ejhg.5201644